Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88733997_88734002del , CM000678.2:g.88733997_88734002del | GRCh38 |
| NC_000016.9:g.88800405_88800410del , CM000678.1:g.88800405_88800410del | GRCh37 |
| NC_000016.8:g.87327906_87327911del | NCBI36 |
| NG_042229.1:g.56228_56233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2242_2247del (PIEZO1) MANE Select | ENSP00000301015.9:p.Gln748_Gln749del | |
| ENST00000301015.13:c.2242_2247del (PIEZO1) | ENSP00000301015.9:p.Gln748_Gln749del | |
| NM_001142864.2:c.2242_2247del (PIEZO1) | NP_001136336.2:p.Gln748_Gln749del | |
| NM_001142864.3:c.2242_2247del (PIEZO1) | NP_001136336.2:p.Gln748_Gln749del | |
| NR_103774.1:n.269+2549_269+2554del (HSALR1) | ||
| NM_001142864.4:c.2242_2247del (PIEZO1) MANE Select | NP_001136336.2:p.Gln748_Gln749del |